Variant ID: X-49958130-A-G

NM_003886.2(AKAP4):c.1234T>C;(p.Phe412Leu)

This variant was identified in 1 publication




Publications:


Exome sequencing of primary breast cancers with paired metastatic lesions reveals metastasis-enriched mutations in the A-kinase anchoring protein family (AKAPs).

Bmc Cancer
U Kjällquist, R Erlandsson, NP Tobin, A Alkodsi, I Ullah, G Stålhammar, E Karlsson, T Hatschek, J Hartman, S Linnarsson, J Bergh
Publication Date: 2018-02-12

Variant appearance in text: AKAP4: Phe412Leu
PubMed Link: 29433456
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000358526.2 c.1234T>C p.Phe412Leu missense_variant 5/6 -
ENST00000376056.2 c.1207T>C p.Phe403Leu missense_variant 5/6 -
ENST00000376058.2 c.542-457T>C - intron_variant - 5/6
ENST00000376064.3 c.1207T>C p.Phe403Leu missense_variant 5/6 -
ENST00000448865.1 c.542-457T>C - intron_variant - 5/5
ENST00000481402.1 n.1346T>C - non_coding_transcript_exon_variant 5/6 -
NM_003886.3 c.1234T>C p.Phe412Leu missense_variant 5/6 -
NM_139289.2 c.1207T>C p.Phe403Leu missense_variant 5/6 -